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Aliases for TBC1D19 Gene

Aliases for TBC1D19 Gene

  • TBC1 Domain Family Member 19 2 3 5
  • TBC1 Domain Family, Member 19 2

External Ids for TBC1D19 Gene

Previous GeneCards Identifiers for TBC1D19 Gene

  • GC04P026262
  • GC04P025923

Summaries for TBC1D19 Gene

GeneCards Summary for TBC1D19 Gene

TBC1D19 (TBC1 Domain Family Member 19) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot for TBC1D19 Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D19 Gene

Genomics for TBC1D19 Gene

Regulatory Elements for TBC1D19 Gene

Genomic Location for TBC1D19 Gene

Chromosome:
4
Start:
26,576,437 bp from pter
End:
26,769,771 bp from pter
Size:
193,335 bases
Orientation:
Plus strand

Genomic View for TBC1D19 Gene

Genes around TBC1D19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D19 Gene

Proteins for TBC1D19 Gene

  • Protein details for TBC1D19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5T2-TBC19_HUMAN
    Recommended name:
    TBC1 domain family member 19
    Protein Accession:
    Q8N5T2
    Secondary Accessions:
    • B9A6M0
    • Q9NUX1

    Protein attributes for TBC1D19 Gene

    Size:
    526 amino acids
    Molecular mass:
    60208 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TBC1D19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D19 Gene

Proteomics data for TBC1D19 Gene at MOPED

Post-translational modifications for TBC1D19 Gene

  • Ubiquitination at Lys 234
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D19 Gene

No data available for DME Specific Peptides for TBC1D19 Gene

Domains & Families for TBC1D19 Gene

Protein Domains for TBC1D19 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5T2

UniProtKB/Swiss-Prot:

TBC19_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D19: view

No data available for Gene Families for TBC1D19 Gene

Function for TBC1D19 Gene

Molecular function for TBC1D19 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

Gene Ontology (GO) - Molecular Function for TBC1D19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with TBC1D19: view
genes like me logo Genes that share phenotypes with TBC1D19: view

Animal Model Products

CRISPR Products

miRNA for TBC1D19 Gene

miRTarBase miRNAs that target TBC1D19

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D19 Gene

Localization for TBC1D19 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D19 Gene COMPARTMENTS Subcellular localization image for TBC1D19 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D19 Gene

Pathways & Interactions for TBC1D19 Gene

SuperPathways for TBC1D19 Gene

No Data Available

Interacting Proteins for TBC1D19 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000264866%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q8N5T2-TBC19_HUMAN ENSP00000264866 for TBC1D19 Gene via I2D UniProtKB STRING

Gene Ontology (GO) - Biological Process for TBC1D19 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TBC1D19 Gene

Drugs & Compounds for TBC1D19 Gene

No Compound Related Data Available

Transcripts for TBC1D19 Gene

Unigene Clusters for TBC1D19 Gene

TBC1 domain family, member 19:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D19 Gene

No ASD Table

Relevant External Links for TBC1D19 Gene

GeneLoc Exon Structure for
TBC1D19
ECgene alternative splicing isoforms for
TBC1D19

Expression for TBC1D19 Gene

mRNA expression in normal human tissues for TBC1D19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBC1D19 Gene

This gene is overexpressed in Breast (52.6) and NK cells (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for TBC1D19 Gene



SOURCE GeneReport for Unigene cluster for TBC1D19 Gene Hs.479403

genes like me logo Genes that share expression patterns with TBC1D19: view

Protein tissue co-expression partners for TBC1D19 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D19 Gene

Orthologs for TBC1D19 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D19 36
  • 100 (a)
OneToOne
TBC1D19 35
  • 99.81 (n)
  • 99.81 (a)
cow
(Bos Taurus)
Mammalia TBC1D19 35
  • 95.69 (n)
  • 98.1 (a)
TBC1D19 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D19 36
  • 99 (a)
OneToOne
TBC1D19 35
  • 95.74 (n)
  • 98.78 (a)
mouse
(Mus musculus)
Mammalia Tbc1d19 16
Tbc1d19 36
  • 97 (a)
OneToOne
Tbc1d19 35
  • 91.7 (n)
  • 97.34 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D19 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D19 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d19 35
  • 92.65 (n)
  • 97.72 (a)
chicken
(Gallus gallus)
Aves TBC1D19 35
  • 83.84 (n)
  • 91.44 (a)
TBC1D19 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D19 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34245 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d19 35
  • 74.97 (n)
  • 82.18 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d19 35
  • 70.87 (n)
  • 77.86 (a)
zgc63795 35
tbc1d19 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008377 35
  • 48.12 (n)
  • 43.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7742 35
  • 49.36 (n)
  • 42.36 (a)
CG7742 36
  • 41 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12660 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6389 36
  • 59 (a)
OneToOne
Species with no ortholog for TBC1D19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D19 Gene

ENSEMBL:
Gene Tree for TBC1D19 (if available)
TreeFam:
Gene Tree for TBC1D19 (if available)

Paralogs for TBC1D19 Gene

No data available for Paralogs for TBC1D19 Gene

Variants for TBC1D19 Gene

Sequence variations from dbSNP and Humsavar for TBC1D19 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs16878555 - 26,673,793(+) AAGAT(A/G)GTGCT nc-transcript-variant, reference, missense
rs17852970 - 26,754,892(+) CCTTT(C/T)TACTT intron-variant, nc-transcript-variant, reference, missense
rs260947 -- 26,606,369(-) CCTTT(A/T)AAGTC intron-variant
rs260948 -- 26,596,957(+) gcttg(A/C)tttgc intron-variant
rs260949 -- 26,597,544(+) ttttt(A/T)agtag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D19 Gene

Variant ID Type Subtype PubMed ID
nsv522423 CNV Gain 19592680
nsv878768 CNV Loss 21882294
nsv524115 CNV Loss 19592680
esv2678106 CNV Deletion 23128226
nsv470021 CNV Loss 18288195

Variation tolerance for TBC1D19 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D19 Gene

HapMap Linkage Disequilibrium report
TBC1D19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D19 Gene

Disorders for TBC1D19 Gene

Relevant External Links for TBC1D19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D19

No disorders were found for TBC1D19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D19 Gene

Publications for TBC1D19 Gene

  1. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PMID: 22354992) Popovic D. … Dikic I. (Mol. Cell. Biol. 2012) 3
  5. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M. … da Cruz e Silva E.F. (Biochem. Pharmacol. 2011) 3

Products for TBC1D19 Gene

Sources for TBC1D19 Gene

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